Canonical Allele Identifier: CA2669479326
Gene: IDUA HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1000817C>A , CM000666.2:g.1000817C>A GRCh38
NC_000004.11:g.994605C>A , CM000666.1:g.994605C>A GRCh37
NC_000004.10:g.984605C>A NCBI36
NG_008103.1:g.18821C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000247933.9:c.386-65C>A ENSP00000247933.4:n.386-65C>A
ENST00000514224.2:c.386-65C>A MANE Select ENSP00000425081.2:n.386-65C>A
ENST00000652070.1:n.442-65C>A
ENST00000247933.8:c.386-65C>A ENSP00000247933.4:n.386-65C>A
ENST00000502910.5:c.245-65C>A ENSP00000422952.1:n.245-65C>A
ENST00000504568.5:c.346-65C>A
ENST00000506561.5:n.395-65C>A
ENST00000508168.5:n.264-65C>A
ENST00000509948.5:c.179-65C>A ENSP00000424227.1:n.179-65C>A
ENST00000514192.5:c.203-65C>A ENSP00000423685.1:n.203-65C>A
ENST00000514224.1:c.-11-65C>A ENSP00000425081.1:n.-11-65C>A
ENST00000514698.5:n.286-65C>A
NM_000203.4:c.386-65C>A NP_000194.2:n.386-65C>A
NR_110313.1:n.474-65C>A
XM_006713882.2:c.-11-65C>A XP_006713945.1:n.-11-65C>A
XM_011513459.1:c.245-65C>A XP_011511761.1:n.245-65C>A
XM_011513460.1:c.245-65C>A XP_011511762.1:n.245-65C>A
XM_011513461.1:c.179-65C>A XP_011511763.1:n.179-65C>A
XM_011513462.1:c.33C>A XP_011511764.1:p.Ser11Arg
XM_011513463.1:c.33C>A XP_011511765.1:p.Ser11Arg
XR_924947.1:n.455-65C>A
NM_000203.5:c.386-65C>A MANE Select NP_000194.2:n.386-65C>A
NM_001363576.1:c.-11-65C>A NP_001350505.1:n.-11-65C>A
XM_011513461.2:c.179-65C>A XP_011511763.1:n.179-65C>A
XM_017008163.1:c.-1081-65C>A XP_016863652.1:n.-1081-65C>A